Variant report

Variant	rs2418327
Chromosome Location	chr9:118052341-118052342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr9:118052094-118052455	SK-N-SH_RA	brain:	n/a	n/a
2	TCF12	chr9:118051772-118053029	SK-N-SH	brain:	n/a	n/a
3	PBX3	chr9:118051925-118052606	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr9:118052132-118052598	SK-N-SH	brain:	n/a	n/a
5	CEBPB	chr9:118052194-118052460	A549	lung:	n/a	chr9:118052395-118052408
6	MAX	chr9:118051864-118052560	SK-N-SH	brain:	n/a	n/a
7	PBX3	chr9:118051838-118052763	SK-N-SH	brain:	n/a	n/a
8	CEBPB	chr9:118052243-118052443	IMR90	lung:	n/a	chr9:118052395-118052408
9	EP300	chr9:118051945-118052781	SK-N-SH	brain:	n/a	n/a
10	JUND	chr9:118052009-118052745	SK-N-SH	brain:	n/a	n/a
11	TCF12	chr9:118051877-118052686	SK-N-SH	brain:	n/a	n/a
12	EP300	chr9:118052071-118052891	SK-N-SH	brain:	n/a	n/a
13	MAX	chr9:118051975-118052511	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr9:118051812-118053082	SK-N-SH	brain:	n/a	n/a
15	NFIC	chr9:118051758-118052838	SK-N-SH	brain:	n/a	chr9:118052347-118052364 chr9:118052348-118052364
16	TEAD4	chr9:118052009-118052821	SK-N-SH	brain:	n/a	n/a
17	TEAD4	chr9:118051972-118052801	SK-N-SH	brain:	n/a	n/a
18	JUND	chr9:118052038-118052751	SK-N-SH	brain:	n/a	n/a
19	NFIC	chr9:118052030-118052646	SK-N-SH	brain:	n/a	chr9:118052347-118052364 chr9:118052348-118052364
20	RXRA	chr9:118052005-118052754	SK-N-SH	brain:	n/a	n/a
21	YY1	chr9:118052012-118052491	SK-N-SH	brain:	n/a	n/a
22	FOSL2	chr9:118051996-118052774	SK-N-SH	brain:	n/a	n/a
23	GATA3	chr9:118051914-118053152	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
DEC1	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1029341	0.82[EUR][1000 genomes]
rs10481680	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10817733	0.86[CHB][hapmap]
rs10817734	0.87[CEU][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.80[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10817741	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10817742	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10982654	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs12001569	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12338583	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12348813	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2183700	0.81[CHB][hapmap]
rs2285314	0.82[CHB][hapmap]
rs2285315	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2989508	0.81[CHB][hapmap]
rs2992142	0.81[CHB][hapmap]
rs2992144	0.81[CHB][hapmap]
rs35686252	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4112338	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4147051	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72762372	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72762378	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72764238	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7846857	0.89[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv615251	chr9:117975864-118514444	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118042800-118052800	Weak transcription	Gastric	stomach
2	chr9:118047600-118052800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:118048600-118054000	Weak transcription	HSMM	muscle
4	chr9:118049000-118053800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:118051800-118053000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr9:118051800-118055200	Enhancers	Colon Smooth Muscle	Colon
7	chr9:118052000-118052800	Weak transcription	Fetal Lung	lung
8	chr9:118052000-118060000	Enhancers	Fetal Intestine Small	intestine
9	chr9:118052200-118052400	Enhancers	Adipose Nuclei	Adipose
10	chr9:118052200-118052400	Enhancers	Fetal Stomach	stomach
11	chr9:118052200-118052800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr9:118052200-118052800	Weak transcription	NH-A	brain
13	chr9:118052200-118053200	Enhancers	Fetal Muscle Leg	muscle
14	chr9:118052200-118053800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:118052200-118059600	Enhancers	Fetal Intestine Large	intestine

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